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Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.

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2013 GFPD Family & Scientific Conference - Lincoln, Nebraska

Our family has been looking forward to the 2013 GFPD Family & Scientific Conference since we left the 2012 conference. It is the one week out of the year we get to spend surrounded by other families who "get it" and understand this diagnosis/journey/life. We are blessed that in addition to families who have been forever changed because of PBD-ZSD, many of the top PBD-ZSD specialists from North America attend and get a chance to present their research, share what they have been doing the past year, what they are hoping to do in the next year and interact with our families! These specialists are truly "our doctors/scientists" and we love them and consider them part of our GFPD family. Our GFPD family has also expanded in the last couple of years to include some amazing ladies whoThursday, July 24th
We left our house at 6 o'clock in the morning for the journey west. Ethan did amazingly well, all things considered. We arrived in Lincoln, NE around 3:30pm. After getting settled into our room and resting a bit we ventured out and were pleasantly surprised by how many other families where already at the hotel. We got to visit with a few and then had dinner. It was just a very laid back afternoon and evening.

Friday, July 15th
In the late morning and early afternoon I was able to help with some of the last minute details/touches that needed to be completed before registration began at 4pm. Not only do I enjoy serving/helping but when you are with friends it makes it even more enjoyable! We did take a short lunch break and the three of us headed out to see what we could find to eat in Downtown Lincoln. We ended up getting burgers and fries at 5 Guys. Neither of us had every eaten at a 5 Guys. It was really good -- definitely not healthy, but it was delicious.

Around 4pm families slowly trickled down to pick up their registration packets and many mingled and visited while we waited for our opening dinner/session. The meal was excellent but being in the company of so many of our GFPD families is what made it really special. The first presentations of the conference that evening were filled with hope as well. We still don't have a cure, and we need better treatments, but progress is being made.

Check out the 2013 GFPD Family & Scientific Conference Opening Video!

After dinner GFPD presented monetary grants totaling more that $100,000 to doctors/researchers who are working on studies related to PBD-ZSD. You can read more about this on the GFPD website. This is just the beginning, but at least it is a start. GFPD needs to continue to be able to raise money for PBD-ZSD research. This disease is rare and with so many funding cuts it really does fall on us as an organization, our families and friends to raise the funds that our doctors/researchers need to keep their work going.

Here are some pictures from Friday night's dinner and opening session. You might notice that the kids didn't really care about the presentations.

On your mark, get set, GO!

Watching these kiddos play "together" was so good for my heart. It was in our own special way so "normal."

Thankfully the childcare room was available on Saturday, Sunday, and Monday so that parents could attend the conference sessions without the kiddos.

Saturday, July 27th
We began the morning with an attempted blood draw for Ethan. Several children at the conference needed baseline blood work done as part of enrolling in the Betaine trial. Ethan is not part of the trial since he has been taking Betaine since October 2011, however a blood sample can still be useful to some of the other researchers - specifically Mayo Clinic who is collecting data for the newborn screening for ALD & PBD-ZSD and the Kennedy Krieger Institute/Johns Hopkins labs which specialize in PBD-ZSD research/testing. So, although we don't love making Ethan give blood, we believe participating in these type of studies is important. Ethan however didn't want to give any of his blood away, so after several attempts we told the nurses we were done and that we were sorry they couldn't get any. We agreed that we would try again on Tuesday when we took Ethan to Omaha Children's Hospital for his clinic visit with the doctors.

After we feed Ethan his breakfast and got him calmed down we dropped him of at the childcare room and headed to the morning conference session. The ladies in the childcare room love these kiddos. It provided respite for the families with living children with PBD-ZSD as well as those who brought their healthy typically developing children with them. Every time we went to check on Ethan he had someone wrapped around his finger. He can really put on the charm! It was also really nice to see so many of the same people who have been there to volunteer during the last two conferences as well. They remembered Ethan from the 2011 and 2012 conferences.

Saturday night was also Parent's Night Out! Child care was provided for a couple of hours and Jeff and I had a wonderful dinner at a local steakhouse. We spoiled ourselves a bit and enjoyed the nice dinner out all by ourselves--- we don't do that very often.

The Fruit Fly Model of PBD-ZSD [Dr. Richard Rachubiniski, University of Alberta]

It was a busy day. We learned of a new possible treatment that may help Ethan and other kids with PBD-ZSD. The chemical/drug is classified as a flavonoid. The specific flavonoid that has showed promise in a petri dish in the lab is Diosmetin. There is a possible OTC supplement that may be used in the future to possibly treat kids with PBD-ZSD. We have a number of things that we need to get figured out with Ethan -- we've got to try to get these seizures under control and during the conference he was having a lot of excessive urination, and we possibly have some additional adrenal issues that need to be addressed -- but when we get that all worked out we are going to be working with Dr. Braverman to see if we can begin treating Ethan with this supplement.

In the petri dish in the lab, PBD-ZSD cells with the PEX 1 G843D mutation(s) saw increased peroxisome function when treated with Diosmetin. More significantly was that when these cells were treated with a combination of Betaine and Diosmetin there was a larger increase in peroxisome function then when treated with either compound by itself.

Will these drugs increase peroxisome function in human beings? The honest answer is NOBODY KNOWS. Dr. Steinberg is going to start treating "our PBD-ZSD mice" with Diosmetin sometime this fall. Hopefully he will have good news to report by the beginning of 2014!

Ethan enjoyed another fun day in the childcare room during the conference sessions and in the evening we went to the Country Club of Lincoln for dinner and swimming with our whole group. Since it was only in the mid-70s most people, including us, didn't swim, but we did have a great dinner and enjoyed visiting with our friends.

Ethan and Ainsley

Ethan, Emily, Jeff & Landon

Ethan, Ethan, and Landon

Our GFPD Family

Monday, July 29th
Sessions/Topics for the day included:

Town Hall/GFPD Family Meeting

Hearing Issues and Technology Considerations [Jeff Simmons, Boys Town National Research Hospital]

Educating Students who are Deaf-Blind and their Teams [Jodi Morgan & Jill Bohlen, Lincoln Public Schools Deaf-Blind Team]

American Sign Language (ASL) 101: Signing in the home, school & community [Ashley Maple]

Group Session facilitated by Marlyn Minkin, LMFT/LMHC

Today was an emotional day. We new it would be the last day that many of us got to spend time with one another and we covered some pretty heavy topics. The closing group session was heart wrenching but so amazing. We sat in a circle with other families with experiences all along the PBD-ZSD journey and we shared our hearts, our struggles, our fears, and our love for one another. My GFPD family includes people from different ethnic, cultural, socioeconomic and religious backgrounds. There are many things that we may never see eye-to-eye on or agree upon, but one thing is for sure, this group is FAMILY and we LOVE each other and each other kids! Thanks to our GFPD family Ethan has lots of "aunts" and "uncles."

Ethan had another great day in the kids room. When we picked Ethan up after the final session we had to start saying our goodbyes to all of the amazing childcare workers. Ethan had an amazing three days with the other kids and the volunteers. We would not have been able to experience the conference like we did without them. They were wonderful with all the kids and since the room was just a few steps away from where we were meeting we could check in on then whenever we wanted. I think Ethan had a blast. What do you think?

After we attempted to pull ourselves together we had a short break before heading to the Lincoln Children's Museum where we had a Memorial & Balloon Release Ceremony followed by dinner and playtime/visiting at the museum. All of the families who were at the conference who have/had children (living and deceased) impacted by PBD-ZSD were recognized and the names of all the children in our GFPD family who have passed away since the 2012 Conference were honored as well. So many children. My heart just ached.

Here are a few pictures:

﻿

A balloon? Really?

Wow, this is awesome!

And it tastes good too!

Following the ceremony we headed inside and had a wonderful dinner and time visiting with our GFPD family. Lots of families enjoyed the Children's Museum as well. I visited while Jeff pushed Ethan around in the stroller exploring the place. I seemed like a very cool place for kids.

We stayed and closed the place down! It was so hard knowing that we wouldn't get spend anymore time with so many of our friends who would be leaving in the morning.

Tuesday, July 30th
We left the hotel before 7am to head to Omaha Children's Hospital for Ethan's DEXA (bone density) scan and clinic visit. Shortly after getting to the hospital we ran into another one of our families and we all headed down to radiology together.

After a short wait Ethan was called back for his DEXA scan. It is somewhat like an x-ray. The tech was really good and had a toy that Ethan loved and it was over in no time. After that we headed upstairs to the lab for another attempt at getting blood drawn. It was a huge mess! No one knew what tests needed to be ran, how much blood was needed, etc. All of this time Ethan is fasting of course and getting hungrier and grumpier by the minute. Eventually we were told just to go up to our clinic visit and hopefully they would figure it out and send someone up to take his blood.

So, we headed to the clinic and checked in. We waited a while in the waiting room before being called back. Then we waited a lot longer in the room. Never a good idea! By the time it was 10am and we still hadn't been seen and the lab hadn't come up to draw labs we told the nurse that we had to feed Ethan! So, we did. While we were feeding him, Dr. Rush came in and explained Ethan's DEXA scan to us. Ethan's bone density is not good -- borderline osteoporosis. Kids with PBD-ZSD have bad bones, because just like every other system in the body, the skeletal system is impacted by the fact that Ethan's peroxisomes don't work right. BOO! At this time we aren't going to seek any type of bone strengthening treatment besides making sure he has proper nutrition, Vitamin D supplementation and that we try to get Ethan to do as much weight bearing as possible.

After meeting with Dr. Rush we hung out a bit, found out that we had some good friends hanging out in the exam room next to us, so we visited until the rest of the specialists came to see us. The visit with Dr. Braverman and Dr. Rizzo was good. We know that we are doing what we can for Ethan. They had some suggestions about a possible switch of seizure meds, but other than that they seemed to think that there wasn't a lot of other things we needed to do. It has been a big year for Ethan since they saw him last. He's made some great gross motor gains but we've had additional medical setbacks as well -- Ethan is now steroid dependent due to his adrenal insufficiency, his hearing loss has progressed, he became g-tube dependent, and he now has seizures. YUCK! On the positive side though since last year's conference Ethan has learned to crawl on all fours, pull up and climb onto the furniture, pull up to standing, and cruising! Sometimes it is hard to remember the good things because while the progress is no where near normal and is happening VERY VERY VERY slowly, at this point Ethan is still making progress and learning new stuff. So we will rejoice in that and continue to address the challenges as they occur with the best of our ability.

Dr. Rizzo, Dr. Braverman, and Ethan. Yes, Dr. Braverman is tiny, but wow in this picture Ethan just looks HUGE!

After our appointment with Dr. Rizzo and Dr. Braverman we waited to see another doctor, a pediatric endocrinologist and also get news about whether or not we would get to see a pediatric orthopedic as well. While we waited we visited out in the hallway with the therapy dogs.

Then we headed back into our room. Ethan was getting a little restless.

We also had to say goodbye to our friends next door since they were leaving for home (OK) once they were done with their appointments.

"Aunt" Melissa and Ethan.

We met with the pediatric endocrinologist and he thought that Ethan's daily steroid dose was probably correct but wished that we could do some 8am Cortisol and ACTH tests, but since it was already late morning that just wasn't possible. We mentioned to him about the excessive urination and the seizures and he felt that there might be a correlation with Ethan's adrenals but he couldn't be sure. He was really nice and provided us with information that we will bring up with our local pediatric endocrinologist when we see her in a week or so.

While we were meeting with him the nurse was trying to get a hold of the pediatric orthopedic. At first we thought we might get to see him next, but it turned out we couldn't see him until later in the afternoon, so we headed down to the cafeteria for lunch. We had almost finished lunch when the Burdick family walked into the cafeteria so we stuck around and visited with them while they ate and then we all eventually made our way upstairs to the clinic waiting area to wait for our respective appointments. Several other GFPD families were waiting, and so we had a good time visiting while we all waited.

Eventually, we were called back to see the pediatric orthopedic. He had seen Ethan's x-rays and examined Ethan's foot. He didn't believe their was a fracture but agreed that it must be sore if Ethan was no longer bearing weight, pulling up, cruising, etc. He instructed us to continue to keep him in his AFOs as much as possible and if he didn't start bearing weight on it again in the next week or two to have our primary doctor back at home reorder x-rays just in case something was missed the first time. The doctor was great, and we hope that his connections will be able to get us referred to the pediatric orthopedic at the Children's Hospital in Peoria. He even knew where Peoria was -- his daughter graduated from Bradley University. :)

After seeing him we were finally done with all of the doctors! Yippee! When we came out to the waiting room there were still a number of GFPD families waiting. We hung out and visited. Why not? This was really our last chance to spend time with these guys. I especially enjoyed the time we got to spend visiting with the Butalla family.

Here are some pictures of Ethan and his buddy, Sam, just chilling out in the waiting room.

"Another picture? Come on!"

I think Sam's expression says it all --- "Ethan, dude! What do you think you are doing?"

We spent nearly the whole day at the hospital but the good company made the time go by quickly. However, it was time for us to head back to Lincoln and the hotel but not before we made a quick stop at Toys R Us.

After getting back we decided to take a walk and find dinner, so we went to Qdoba Mexican Grill -- neither of us had ever ate there and brought it back so we could let Ethan play in the room. After dinner we started packing and called it an early night since we needed to be up and moving early.

Wednesday, July 31st
We left Lincoln, NE around 8am and got back to Decatur, IL around 6:30pm. While we were so glad to be home and out of the car, we were already missing our GFPD family!

*Once again I would like to say THANK YOU to all who donated your time, talents, and treasure to help our family attend the conference without having to worry about the cost of transportation and lodging. You are a true blessing to us. Thank you for your continued love, support and prayers.

Comments

Awesome pictures, I'm so sad we didn't get to go and meet all the sweet families including you guys. All the kids are so cute. Hopefully next year! :) Ethan is getting so big and is progressing well at this own pace. :) That's what I always have to remind myself, they are on their own path. Thanks for sharing.

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